Canonical Allele Identifier: CA697433941
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs894120852
MyVariant Identifiers: chr13:g.33598799G>A (hg19) chr13:g.33024661G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33024661G>A , CM000675.2:g.33024661G>A GRCh38
NC_000013.10:g.33598799G>A , CM000675.1:g.33598799G>A GRCh37
NC_000013.9:g.32496799G>A NCBI36
NG_011485.1:g.13229G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.819+7402G>A MANE Select ENSP00000369442.3:n.819+7402G>A
ENST00000380099.3:c.819+7402G>A ENSP00000369442.3:n.819+7402G>A
ENST00000487852.1:n.827+7402G>A
NM_004795.3:c.819+7402G>A NP_004786.2:n.819+7402G>A
XM_006719895.1:c.-103+8348G>A XP_006719958.1:n.-103+8348G>A
XM_006719895.2:c.-103+8348G>A XP_006719958.1:n.-103+8348G>A
NM_004795.4:c.819+7402G>A MANE Select NP_004786.2:n.819+7402G>A
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